Given my background as a mom with two kids with this deficiency, as a well as a board certified family physician, my goal is to make lipoprotein lipase deficiency / Fredrickson's type I hyperlipidemia / Buerger-Gruetz syndrome more understandable and liveable for other families.

Friday, December 11, 2015

Big news for our family

Teresa will be 7 months old on Monday. A month ago, we were dragging our feet to have her lipids checked, especially since she's just so healthy! She gains weight like none of our other babies ever have! She's happy and has hardly even had a diaper rash! She has her first set of sniffles right now, but even they don't clog her nose and make breastfeeding hard for her.

On the one hand, I desperately don't want her to have LPLD. I want her to chow down on macaroni and cheese when she's had a hard day, eat a big grilled cheese sandwich when it's cold outside, have a stash of good chocolate that she nibbles when she feels like it, and eat big bowls of ice cream. I want her to never be hospitalized. I want her to get pregnant and have babies safely and easily and healthily.

But there's a tiny part of my heart that doesn't want Monica to be alone in all this. She is so attached to Teresa, no one can make Teresa laugh like Monica can. Wouldn't it be nice for Monica, alone in so many ways with this one-in-a-million disease, to have someone to share her pain with? If there's a baby who has to have LPLD, wouldn't I want him or her to be in my family, where we know this disease and it's not such a big deal? Wouldn't it be great for Monica to have not only another sister, but a sister in her illness, who can share trials and recipes and hugs, even when Luke and I are gone?

We knew we were going to test Teresa soon and sometimes I would ask Monica to pray with me that Teresa didn't have it. Monica was definitely torn on praying for what was best for her sister's health versus wanting a friend in her difficulties.

So when I got the results, when I saw Teresa's triglycerides were >1000, too much to count, I felt so guilty. So guilty to wish this on my baby with even the tiniest corner of my heart. So guilty for wanting to have more babies at all with this terrible gene in my blood, even playing the odds of a 1 in 4 chance, was I just being greedy?

The latest patient with LPLD

I'm also reflecting on just how difficult things were when Monica was diagnosed. Even after the relief of her not having cancer, I remember going to Whole Foods and walking around, looking at the fat content of foods. There was some relief (ketchup! pasta!) and a whole lot of worry and disappointment about what she could eat. At least we don't have to do that for this little baby. I don't stay awake all night wondering if she will be alive in a year or whether this is a countdown of her last days on earth. But I'm having a hard time being thankful for that. My heart will come to peace with this eventually, but for now it is broken for my tiny daughter's sake.

So I should probably change my blog name to Monica and Teresa's Mom. My two little one-in-a-million children.

1 comment:

Can't really miss what you've never had.I don't miss eating macaroni and cheese at all.I don't eat cheese at all.I tried low-fat cheese one time when I was about 34 years old - I'm sorry guys, but that stuff is DISGUSTING!!!Cheese must be a developed taste. lol

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About Me

My toddler daughter was diagnosed in 2012 and we've changed a lot about our family's lifestyle and diet to accommodate her. Now we know our little baby born in 2015 has it, too, and we've been doing crazy things to keep her drinking breastmilk! It's not easy, but it's definitely not as scary as I first thought it was when we were diagnosed! Mostly it's a relief that she doesn't have something worse, and she will be with us for years to come! My background as a residency trained family physician certainly comes in handy for talking with specialists and reading the latest gene therapy articles. I hope I can make it all more understandable and liveable for other families!
Other resources for LPLD:
http://www.lpldalliance.org/
https://www.rareconnect.org/en/community/lipoprotein-lipase-deficiency